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  1. Genes and Genomic Entities
  2. DNAJC5

DNAJC5

DnaJ heat shock protein family (Hsp40) member C5
OMIM: 611203, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green DNAJC5 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.50

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083

    Green DNAJC5 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.43

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083

    Green DNAJC5 in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083

    Green DNAJC5 in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.23

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083

    Green DNAJC5 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083

    Green DNAJC5 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DNAJC5 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.59

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083

    Green DNAJC5 in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.22

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083

    Red DNAJC5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Neuronal ceroid lipofuscinosis, adult-onset

    Red DNAJC5 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Neuronal ceroid lipofuscinosis, adult-onset